To all our LFSA members,
We are pleased to share an international study with you called LiFT UP (Li-Fraumeni & TP53: Understanding & Progress). Anyone who has a TP53 mutation and their family members are eligible to join.
This study will help clinicians and patients understand more about TP53 and Li-Fraumeni syndrome.
Download the LiFT UP flyer for more information. To join and learn more about the LiFT UP study, please click the link for the study website: https://liftupstudy.org/
You are also welcome to contact them directly at liftup@coh.org or liftupstudy@DFCI.HARVARD.EDU
Your involvement in research studies is greatly appreciated! If you are participating in other LFS studies, you are still eligible to join the LiFT UP study as well.
Thank you!
Jenn Perry
LFSA President, LFS Patient and Mother
About the LiFT UP Study
The LiFT UP Study is being done to understand changes in the TP53 gene (called mutations or variants) that can be found in a blood sample, both those that are and those that are not associated with Li-Fraumeni syndrome (LFS).
Our goals are to learn how to:
- Determine if a person who has a TP53 variant found in a blood test was born with the variant, or if the variant occurred later in life. When a TP53 variant is present from birth, it is associated with LFS. If the TP53 variant appeared later in life, it is called ACE or CHIP. ACE or CHIP findings can be important for other health conditions.
- Better predict cancer risks for people who have a TP53 mutation in their blood, whether as part of LFS or as a type of ACE or CHIP
Li-Fraumeni syndrome and TP53
Li-Fraumeni syndrome is a hereditary condition that increases a person’s chance for developing certain cancers. Everyone has 2 copies of a gene called TP53. People with LFS are usually born with a change (also known as a variant or mutation) in one of their TP53 copies. This variant prevents the gene from doing its job normally. Less commonly, some people appear to have LFS based on their personal and family cancer history, even if their genetic testing does not show a TP53 gene variant.
People who have LFS may develop two or more cancers, especially some rare cancers, often at very young ages. Relatives can be tested to see whether they share the TP53 variant. However, some people with LFS or TP53 variants will never develop cancer.
TP53 changes not associated with LFS
Some people who get genetic testing may have results suggesting that they have an acquired TP53 variant, meaning that the change occurred later in life, and is not associated with LFS. Those people usually do not share the TP53 variant with family members.
It is important to know when this occurs, as the cancer risk for these people is much lower, and their relatives would not be at risk to inherit the TP53 variant.